{
    "disease_id": "DOID:0080342",
    "recommended_name": {
        "id": "DOID:0080342",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080342",
        "name": "Simpson-Golabi-Behmel syndrome type 2",
        "description": "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems."
    },
    "synonyms": [
        {
            "id": "MONDO:0010265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010265",
            "name": "Simpson-Golabi-Behmel syndrome type 2",
            "description": "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported."
        },
        {
            "id": "MONDO:0010265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010265",
            "name": "OFD1 Simpson-Golabi-Behmel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010265",
            "name": "SGBS2",
            "description": ""
        },
        {
            "id": "MONDO:0010265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010265",
            "name": "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1",
            "description": ""
        },
        {
            "id": "MONDO:0010265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010265",
            "name": "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010265",
            "name": "lethal variant of Simpson-Golabi-Behmel syndrome",
            "description": ""
        },
        {
            "id": "MIM:300209",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300209",
            "name": "Simpson-Golabi-Behmel syndrome 2",
            "description": "Simpson-Golabi-Behmel syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080342"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080342",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080342",
            "categories": []
        },
        {
            "id": "MONDO:0010265",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010265",
            "categories": []
        },
        {
            "id": "MIM:300209",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300209",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SZK7-1",
            "uniprot_ac": "Q7SZK7",
            "uniprot_id": "OFD1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centriole and centriolar satellite protein ofd1",
                    "type": "recommended"
                },
                {
                    "name": "Oral-facial-digital syndrome 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ofd1",
                    "type": "recommended"
                },
                {
                    "name": "wu:fa07a10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd17e11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92562",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SZK7-1",
            "evidence": [
                {
                    "id": "0080342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80Z25-1",
            "uniprot_ac": "Q80Z25",
            "uniprot_id": "OFD1_MOUSE",
            "refseq_ac": "NP_803178",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centriole and centriolar satellite protein OFD1",
                    "type": "recommended"
                },
                {
                    "name": "Oral-facial-digital syndrome 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1",
                    "type": "synonym"
                },
                {
                    "name": "oral-facial-digital syndrome 1 gene homolog",
                    "type": "synonym"
                },
                {
                    "name": "oral-facial-digital syndrome 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ofd1",
                    "type": "recommended"
                },
                {
                    "name": "Cxorf5",
                    "type": "synonym"
                },
                {
                    "name": "DXGgc7e",
                    "type": "synonym"
                },
                {
                    "name": "ORF2",
                    "type": "synonym"
                },
                {
                    "name": "Ofd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Z25-1",
            "evidence": [
                {
                    "id": "0080342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75665-1",
            "uniprot_ac": "O75665",
            "uniprot_id": "OFD1_HUMAN",
            "refseq_ac": "NP_001317138",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centriole and centriolar satellite protein OFD1",
                    "type": "recommended"
                },
                {
                    "name": "Joubert syndrome type 10",
                    "type": "synonym"
                },
                {
                    "name": "Oral-facial-digital syndrome 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein 71-7A",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "centriole and centriolar satellite protein OFD1",
                    "type": "synonym"
                },
                {
                    "name": "oral-facial-digital syndrome 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "protein 71-7A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OFD1",
                    "type": "recommended"
                },
                {
                    "name": "71-7A",
                    "type": "synonym"
                },
                {
                    "name": "CXorf5",
                    "type": "synonym"
                },
                {
                    "name": "JBTS10",
                    "type": "synonym"
                },
                {
                    "name": "OFD1",
                    "type": "synonym"
                },
                {
                    "name": "RP23",
                    "type": "synonym"
                },
                {
                    "name": "SGBS2",
                    "type": "synonym"
                }
            ],
            "record_id": "O75665-1",
            "evidence": [
                {
                    "id": "300209",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300209"
                },
                {
                    "id": "0080342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080342"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZUD5-1",
            "uniprot_ac": "D3ZUD5",
            "uniprot_id": "D3ZUD5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ofd1 centriole and centriolar satellite protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ofd1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZUD5-1",
            "evidence": [
                {
                    "id": "0080342",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080342"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080342"
}